The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells

By Kirschman Lindsay T.   Kolandaivelu Saravanan   Frederick Jeanne M.   Dang Loan   Goldberg Andrew F.X.   Baehr Wolfgang   Ramamurthy Visvanathan  

Human Molecular Genetics, Vol. 19, Iss. 6, 2010-03 ,pp. : 1076-1087

Oxford University Press

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Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

By Swaroop A.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 299-305

Oxford University Press

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Molecular genetics of Leber congenital amaurosis

By Cremers F.P.M.   van den Hurk J.A.J.M.   den Hollander A.I.  

Human Molecular Genetics, Vol. 11, Iss. 10, 2002-05 ,pp. : 1169-1176

Oxford University Press

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The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina

By Spuy J.v.d.   Chapple J.P.   Clark B.J.   Luthert P.J.   Sethi C.S.   Cheetham M.E.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 823-831

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Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1 : effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

By Tan Mei Hong   Smith Alexander J.   Pawlyk Basil   Xu Xiaoyun   Liu Xiaoqing   Bainbridge James B.   Basche Mark   McIntosh Jenny   Tran Hoai Viet   Nathwani Amit   Li Tiansen   Ali Robin R.  

Human Molecular Genetics, Vol. 19, Iss. 4, 2010-02 ,pp. : 735-735

Oxford University Press

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